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A more recent version of this article appeared on June 1, 2008
 (Investigative Ophthalmology and Visual Science. )
© 2008 by The Association for Research in Vision and Ophthalmology, Inc.
DOI:  10.1167/iovs.07-1557
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Article

The LOXL1 Gene Variations are not Associated with Primary Open Angle and Primary Angle Closure Glaucomas

Subhabrata Chakrabarti 1*, Kollu Nageswara Rao 1, Inderjeet Kaur 1, Rajul S. Parikh 2, Anil K Mandal 2, Garudadri Chandrasekhar 2, and Ravi Thomas 2

1 Kallam Anji Reddy Molecular Genetics Laboratory, L.V. Prasad Eye Institute, Hyderabad, India
2 V. S. T. Glaucoma Center, L. V. Prasad Eye Institute, hyderabad, India

* To whom correspondence should be addressed. E-mail: subho{at}lvpei.org.


  Abstract

Purpose: Glaucoma is a complex disease involving multiple genetic factors. Recently, single nucleotide polymorphisms (SNPs) in the LOXL1 gene have been implicated in exfoliation syndrome (XFS) and exfoliation glaucoma (XFG) but not in the primary glaucomas. We aimed to determine the possible involvement of these SNPs in cases of primary open angle (POAG) and primary angle closure glaucomas (PACG). Methods: The three associated SNPs of LOXL1 (rs1048661, rs3825942 and rs2165241) were screened in 208 unrelated and clinically well-characterized glaucoma cases comprising of POAG (n=112) and PACG (n=96) patients along with 105 ethnically matched normal controls from Indian populations. Subjects with exfoliative material on the lens and radial pigmentation in the periphery of the lens that could be earlier signs of XFS were excluded. These SNPs were screened by resequencing and further confirmed by PCR-based restriction digestions. Haplotypes were generated with these three SNPs in cases and controls and linkage disequilibrium (LD) and haplotype analysis were done with the Haploview software that uses the EM algorithm. Results: The SNPs of LOXL1 did not exhibit any significant association with POAG or PACG, similar to previous studies from Icelandic, Swedish, American and Australian populations. Haplotypes generated with these intragenic SNPs did not indicate any significant risk with POAG or PACG phenotypes. The risk haplotype 'G-G' in XFS/XFG in other populations was present in 46% of the normal controls in the present cohort. Conclusion: The results from the present study do not indicate the involvement of the LOXL1 SNPs in POAG and PACG.

Key Words: POAG, PACG, LOXL1, SNP, Haplotype, Association




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Y. Liu, S. Schmidt, X. Qin, J. Gibson, K. Hutchins, C. Santiago-Turla, J. L. Wiggs, D. L. Budenz, S. Akafo, P. Challa, et al.
Lack of Association between LOXL1 Variants and Primary Open-Angle Glaucoma in Three Different Populations
Invest. Ophthalmol. Vis. Sci., August 1, 2008; 49(8): 3465 - 3468.
[Abstract] [Full Text] [PDF]


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